S97G (p.Ser97Gly) variant of ATP7B (Copper-transporting ATPase 2)
S97G (p.Ser97Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S97G (p.Ser97Gly) variant details
- p.Ser97Gly
- gnomAD rs1952031733
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 14.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available